X-linked ichthyosis without STS deficiency: Clinical, genetical, and molecular studies
β Scribed by Robledo, Renato ;Melis, Paola ;Schillinger, Erika ;Casciano, Ida ;Balazs, Ivan ;Rinaldi, Antoniettina ;Siniscalco, Marcello ;Filippi, Giorgio
- Book ID
- 102701611
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 503 KB
- Volume
- 59
- Category
- Article
- ISSN
- 0148-7299
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β¦ Synopsis
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π SIMILAR VOLUMES
We report on a family in which two males are affected with X-linked congenital ataxia (XCA). Clinical manifestations include severe hypotonia at birth, delay of early motor development, slow eye movements, and nonprogressive cerebellar ataxia. The neurological examination excluded a neuromuscular di
We report on several members of a family with varying degrees of X-linked mental retardation (XLMR), isolated growth hormone deficiency (IGHD), and infantile behaviour but without other consistent phenotypic abnormalities. Male patients continued to grow until well into their twenties and reached a